Global Variome shared LOVD
S1PR2 (sphingosine-1-phosphate receptor 2)
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Curator:
Barbara Vona
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Phenotype #0000246780
Individual ID
00328552
Associated disease
KLEFS1
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
(+) Hearing abnormality,(+) Hearing impairment,(+) Delayed speech and language development,(+) Global developmental delay,(+) Absent speech,(+) Neurological speech impairment,(+) Neurodevelopmental delay ; sister also affected, not tested
Inheritance
Unknown
Age/Examination
01y (1 year)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2021-01-29 12:29:37 +01:00 (CET)
Date last edited
2021-01-29 15:20:51 +01:00 (CET)
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